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  2. Pulmonary Arterial Hypertension
  3. TBX4
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Pulmonary Arterial Hypertension

Gene: TBX4

Green List (high evidence)
TBX4 (T-box 4)
EnsemblGeneIds (GRCh38): ENSG00000121075
EnsemblGeneIds (GRCh37): ENSG00000121075
OMIM: 601719, Gene2Phenotype
TBX4 is in 5 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Pulmonary arterial hypertension can be a feature of the condition caused by this gene.
Sources: Expert list
Created: 23 Jan 2020, 12:34 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension MIM#147891

Created: 23 Jan 2020, 12:34 a.m.

Panel version: 0.19

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension MIM#147891
OMIM
601719
Clinvar variants
Variants in TBX4
Penetrance
None
Panels with this gene

History Filter Activity

27 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbx4 has been classified as Green List (High Evidence).

23 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tbx4 has been classified as Green List (High Evidence).

23 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: TBX4 was added gene: TBX4 was added to Pulmonary Arterial Hypertension. Sources: Expert list Mode of inheritance for gene: TBX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TBX4 were set to Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension MIM#147891 Review for gene: TBX4 was set to GREEN